L5 MND Flashcards
(151 cards)
1
Q
MND defintion
A
it is a neurodegenerative disease resulting in progressive muscular paralysis through neuron degeneration in the primary motor corext, corticospinal tracts, brainstem and spinal cord
2
Q
MND characteristics
A
- degeneration of upper and lower motor neurons leading to muscle weakness
- clinical heterogeneity with unknown etiology
3
Q
what is the life expentancy of MND
A
4-5 years from first symptom
4
Q
how long is the average diagnostic delay
A
14 months
5
Q
what are some possible reasons for a diagnostic delay
A
- shortage of neurologist appointments
- lack of availability of testing (MRI) appointments
- some people don’t want to follow up on their symptoms
- lack of education and awareness among some GPs and the public
6
Q
what are two other terms for MND
A
- Amyotrophic Lateral Sclerosis (ALS)
- Lou Gehrig’s Disease
7
Q
where in the world is the term MND more commonly used
A
- Ireland
- UK
- Australia
7
Q
where in the world is the term ALS more commonly used
A
- US
- Canada
8
Q
where in the world may the term Lou Gherig’s disease be used
A
US
9
Q
which two adult-onset neurodegenerative disoders are more common than MND
A
- MS
- PD
10
Q
what does incidence mean
A
new cases being diagnosed over a period of time
11
Q
what is the incidence of MND
A
2.6-3 cases per 100,000
12
Q
what does prevalence mean
A
number of people currently diagnosed
13
Q
what is the prevalence of MND
A
7 per 100,000
14
Q
what is the age of onset
A
can be as early as the second decade but typically in the early 60s
15
Q
what is the male to female risk ratio
A
1/350:1/400
16
Q
what charity in Ireland serves the population of people with MND
A
Irish Motor Neurone Disease Association (IMNDA)
17
Q
how many cases of MND are currently registered with the IMNDA
A
275
18
Q
in what hospital is the specialist MND clinic located
A
Beaumont hospital
19
Q
is there a cure for MND
A
no, there is no cure, remission or effective drug treatments for MND
20
Q
what is the lifetime risk for MND
A
1 in 2000
21
Q
what is the prognosis for MND
A
- 50% live less than three years after diagnosis
- 20% live five years or more after diagnosis
22
Q
what is the peak incidence for MND
A
55-75 with slight male predominance
23
Q
what percentage of MND cases are sporadic
A
90%
24
what percentage of cases are inherited or familial
10-15%
25
how many genes have been identified for familial MND
over 30
26
what gene is associated with 50% of familial cases in ireland
C9orf72 repeat expansion
27
what gene is responsible for 2% of ALS cases
CuZnSOD mutation
28
Which systems does MND not affect
autonomic and sensory
29
what is one way to differentiate MND from PD and MS
sensory and autonomic systems are not affected in MND unlike in MS and PD
30
which motor neurons are resistant to degeneration in MND
the eye movment motor neurons (CN III, IV & VI)
31
why is there no sphincter involvement in MND
- autonomic system is not affected
- incontinence can be a problem, but that is more due to requiring assistance to toilet than with the sphincter
32
what does UMN involvment sometimes cause in MND
emotional lability
33
what percentage of people with MND experience changes in cognition
60%
34
what type of cognition changes are experienced in people with MND
- personality changes
- irritability
- obsessions
- poor insight
- defitics in frontal executive tests
35
what percentage of people with MND develop fronto-temporal dementia
10%
36
what subtypes are there of MND
- amyotrophic lateral sclerosis
- primary lateral sclerosis
- progressive muscular atrophy
- progressive bulbar palsy
37
what are the clinical features of amyotrophic lateral sclerosis
both upper and motor neuron signs in multiple spinal segments
38
what is the most common form of adult-onset MND
amyotrophic lateral sclerosis
39
what is the median survival of amyotrophic lateral sclerosis
3-5 years
40
what are the clinical features of primary lateral sclerosis
upper motor neuron signs only
41
what is the course of primary lateral sclerosis
- many patients eventually develop clincial or electrophysiological signs of LMN involvement
- ALS develops in up to 77% within 3-4 years
42
what is the median survival of primary lateral sclerosis
for those who remain with a diagnosis of PLS, median survival is 20 years or more
43
what are the clinical signs of progressive muscular atrophy
lower motor neuron signs only
44
what is the course of progressive muscular atrophy
variable evolution to ALS
45
what is the median survival of progressive muscular atrophy
5 years, though a subset survive 20 years or more
46
what are the clinical features of progressive bulbar palsy
speech and swallowing are affected initially due to LMN involvement of CN IX, X, XII
47
symtoms of progressive bulbar palsy
- dysarthria, dysphagia and dysphonia
- aspiration pneumonia is usually the terminal event
48
what is the median survival of progressive bulbar palsy
2-3 years
49
what is an example of a disease which has similar traits to MND
Kennedy's Disease
50
what is Kennedy's disease
A slowly progressive disorder of the motor neurons caused by a genetic mutation. It is a rare form of muscular atrophy which leads to weakness.
51
Can women get Kennedy's disease
no, it only affects men though women may carry the genetic mutation
52
Kennedy's disease prognosis
compatible with a normal lifespan
53
cognitive changes which may be present in MND
- executive function
- fluency
- language
- social cognition
54
changes in behaviour associated with MND
apathy & loss of sympathy
55
in MND, what are cognitive changes associated with
- agressive disease
- genetic mutations
- non-compliance
- increased caregiver burden
56
what percentage of people with MND develop cognitive impairment within the spectrum of fronto-temporal dementia
5-15%
57
examples of cognitive and behavioural tests which can be administered to an MND population
- ALS Brief Cognitive Assessment
- ALS Cognitive Behavioural Screen
58
hypothesised causes of MND
- Genetic factors
- Traumatic events
- Toxic exposures.
- Viral infections.
- Excitotoxicity - toxins interacting with glutamate receptor resulting in cellular calcium overload.
- Oxidative stress causing motor neuron damage.
- Speculation about a link with elite athleticism.
59
some symptoms of initial presentation of MND
| (exact presentation will depend on the type of MND)
- Stumbling.
- Foot drop.
- Loss of dexterity.
- Weakened grip.
- Cramps and fasciculations.
- Voice changes.
- Swallowing difficulties.
60
what does loss of upper motor neurones result in
- Muscle weakness
- Stiffness
- Slowness of movement
- Spasticity
61
clinical features of UMN lesions
- increased tone in limbs
- muscular weakness
- brisk tendon reflexts
- extensor plantar responses
62
what does loss of LMNs result in
- muscle weakness and wasting
- cramping and twitching
63
clinical features of LMN lesions
- muscle atrophy
- fasiculations
- muscle weakness
- reduced/absent tendon reflexes
64
examples of conditions which can mimic MND
- Kennedy's disease
- Spinal muscular atrophy
- Myaesthenia gravis
65
three different sites of onset for MND
1. Limb/spinal
2. Bulbar
3. Respiratory
66
what is the most common pattern (site) of onset
limb/spinal, accounting for 60-70% of cases
67
features of limb/spinal onset MND
- assymetrical symptoms
- upper limb presentation is more common
- symptoms include cramps fasciculations, stiffness & stumbling
- will ultimately present with bulbar symtpms
68
what is the least common site of onset
respiratory
69
features of respiratory onset
- Respiratory failure due to motor neuron loss.
- Inspiratory muscles preferentially affected.
- Decreased lung vital capacity (<50% predicted).
- Symptoms include mild dyspnoea (shortness of breath) on exertion, morning sleepiness, and headaches.
70
examples of pulmonary function tests
Spirometry, SNIP, ABGs TOSCA.
71
what is not recommended for people with MND who have respiratory presentation
sedation
72
examples of respiratory symptoms which occur in advanced stages of the disease
- Shortness of breath on exertion (SOBOE)
- Daytime sleepiness
- Fatigue
- Headache
- Orthopnoea
- Weak cough/sniff
- Nocturnal restlessness/sweating
73
what are the features of bulbar onset MND
changes in speech, swallowing and oro-motor functions
74
what percentage of people with MND present with bulbar features at diagnosis
30%
75
what percentage of people with MND present with bulbar features during advanced stages of the disease
80%
76
what is bulbar onset MND associated with
- shorter survival
- faster functional decline
- reduced quality of life
- increased support needs
77
examples of direct MND symptoms
- weakness
- fasciculations
- spasticity
- dysarthria
- dysphagia
- dyspnoea
- emotional lability
78
examples of indirect MND symptoms
- psychological difficulties
- constipation
- sleep disorders
- drooling
- pain
- secretions
- hypoventilation
79
why is diagnosis of MND difficult
- there is no one disease-specific test
- the disease represents a heterogenous group of disorders
80
what is diagnosis of MND based on
- patient's report
- observation over time
- diagnostic tests
- response to intervention
81
what criteria are used in the diagnosis of MND
Gold Coast Critera (Shefner et al., 2020)
82
what does the Gold Coast Criteria state
diagnosis can be reached if there is evidence of UMN and LMN dysfunction in one body region or if there is evidence of LMN dysfunction in at least two body regions
83
diagnostic tests for MND
1. Needle Electromyography (EMG).
2. Nerve conduction studies.
3. Chest X-ray.
4. Autoantibody screening.
5. Thyroid function tests.
6. Creatine kinase levels.
7. Biochemical screen.
8. Full blood count.
84
diagnostic tools for bulbar presentation of MND
- cranial nerve examination
- needle EMG in genioglossus, sternocleidomastoid & trapezius muscles
- cranial nerve MRI of bulbar regions
- auditory perceptual assessment of dysarthria types
- frenchay dysarthria assessment
- videoflouroscopy
- EAT-10
- 3oz swallow test
- voluntary cough test
85
cranial nerve examination
identifies bulbar motor LMN and UMN signs → weakness, fasciculations, atrophy, tone, reflexes
86
advantages of cranial nerve examianation
* well established
* easy to perform
* reliability of items established in stroke, structural disorders and mixed neurological populations
* validated with respect to detection of dysphagia with VFSE.
87
disadvantages of cranial nerve examination
* not sufficiently standardised
* subjective
* measurement proportions have not been evaluated in MND
88
needle EMG in genioglossus, sternocleidomastoid & trapezius muscles
Indicates acute and chronic denervation in selected muscles & LMN changes
89
advantages of needle EMG in genioglossus, sternocleidomastoid & trapeziuz muscles
* well established
* helpful in the exclusion of mimics
* able to detect subclinical involvement
* can be quantitative
90
disadvantages of needle EMG in genioglossus, sternocleidomastoid & trapezius muscles
* invasive
* not well standardised across clinics
* requires substantial training
* low sensitivity due to difficulty with relaxation
* commonly qualitative
90
cranial nerve MRI of bulbar regions
Rules out neurological mimics, tongue and pharyngeal pathology.
91
advantages of cranial nerve MRI of bulbar regions
* widely available; noninvasive
* potentially sensitive to prodromal stages of bulbar disease
92
disadvantages of cranial nerve MRI of bulbar regions
* qualitative
* not formally assessed with respect to clinical utility in the diagnosis of early stages of bulbar disease.
93
auditory perceptual assessment of dysarthria types
Detection of UMN vs LMN signs in speech/voice tasks; rating specified dimensions of voice/speech quality on a Likert scale
94
advantages of auditory perceptual assessment of dyarthria types
well established method in dysarthria assessment in SLT
95
disadvantages of auditory perceptual assessment of dysarthria types
* specific set of MND-relevant items is not established
* may not be equally sensitive to all dysarthria severities
* requires specialised training; not well utilised in neurology
* lengthy
* low reliability for some items
96
frenchay dysarthria assessment
Comprehensive assessment of bulbar structure and function.
97
advantages of frenchay dysarthria assessment
* well established method in dysarthria assessment in SLT
* reliability is establish
98
disadvantages of frenchay dysarthria assessment
* relatively lengthy
* not specific to MND
* validation is limited
99
videoflouroscopy
Gold standard dysphagia assessment to directly visualise swallow safety and efficiency.
100
advantages of VFS
* well established in MND
* showed sensitivity to prodromal stage of dysphagia and sensitivity to change.
101
disadvantages of VFS
* requires expensive instrumentation and highly trained personnel
* involves radiation exposure (although minimal)
* need for a seperate and additional test.
102
EAT-10
self administered screening tool for dysphagia, it has 10 items and is symptom based.
103
advantages of EAT-10
* validated and reliability assessed in a large non-MND cohort
* differentiates safe vs unsafe swallowers in MND
* quick and easy
* low administrative burden for scoring
104
disadvantages of EAT-10
* subjective
* may not be sensitive to early disease stages
105
3oz swallow test
Screening tool for dysphagia; 3oz of water is given to a patient in a cup; pass/fail → fail is an inability to drink without stopping, cough/throat clear, wet voice.
106
advantages of 3oz swallow test
validated in general patient populations with very high sensitivity (but poor specificity); quick and easy to use
107
disadvantages of 3oz swallow test
* not validated in MND
* may miss patients with sensory deficits (ie. silent aspirators) and early signs of dysphagia
* could overestimate risk of dysphagia.
108
voluntary cough test
Screening tool for airway defense physiological capacity using airflow spirometry or peak cough flow meter.
109
advantages of voluntary cough test
* objective, instrumental
* validity, reliability, sensitivity and specificity relative to VFS have been established in MND
110
disadvantages of voluntary cough test
* requires instrumentation and a trained examiner
* voluntary cough is mediated differently neurologically to a reflexive cough
* effort dependent
111
what is an example of an outcome measure used for MND
ALS Functional Rating Scale Revised (ALSFRS)
* 12 items rated from 0-4
112
advantages of ALSFRS (1999)
- Has been found to be predictive of aspiration on videoflouroscopy
- Has been found to be predictive of prognosis.
113
12 items of ALSFRS (1999)
- Speech
- Salivation
- Swallowing
- Handwriting
- Cutting food and handling utensils
- Dressing and hygiene
- Turning in bed and adjusting clothes
- Walking
- Climbing stairs
- Dyspnea
- Orthopnea
- Respiratory insufficiency
114
what type of treatment is usually used for MND
sypmtom-focused care (as opposed to restorative care)
115
example of a medication used to treat MND
Riluzole which extends median survival from 11.8 to 14.8 months
116
examples of a new drugs used for treatment of MND
Ellorarxine
117
example of a drug treatment which has been approved in japan
edaravone
118
example of a drug treatment which may treat bulbar symptoms in MND
nuedexta
119
what is the use of Riluzole based on
excitotoxicity theory of MND pathogenesis
120
example of a drug used for treatment of MND due to the SOD1 gene
tofersen
121
members of the MDT
neurologist
gp
MND clinical nurse specialist
SLT
OT
physio
dietician
social worker
palliative care
psychiatry & neuropsychology
respiratory physician
122
neurologist's role within the MDT
diagnosis, disclosure of diagnosis, treatment and symptom management, initiation of respiratory and nutritional interventions, unbiased information regarding research developments
123
GP's role within the MDT
symptom control, drug monitoring, liaison with other teams
124
clinical nurse specialist's role within the MDT
liaison with medical team and coordination of care, home visits, practical advice regarding accessing support services, patient advocacy
125
SLT's role within the MDT
evaluation and monitoring of dysphagia and aspiration, speech therapy and counselling regarding communication devices
126
OT's role within the MDT
optimisation of patient’s environment, advice regarding safety awareness, adaptive and splinting devices, activity modification, driving, energy conservation, home modification
127
dietician's role within the MDT
evaluation of nutritional status and the need for tube feeding, management of dysphagia, management of enteral feeding
128
physio's role within the MDT
evaluation of muscle strength and function, advice regarding walking aids and orthoses, safety awareness
129
social worker's role within the MDT
advice and counselling regarding employment, change in lifestyle and financial issues, support for carers
130
palliative care's role within the MDT
symptom control, pain management, maintenance of quality of life, preservation of dignity
131
psychiatry and neuropsychology's role within the MDT
evaluation and management of cognitive impairment/dementia, adjustment disorders, anxiety and depression
132
respiratory physician's role within the MDT
assessment of respiratory dysfunction, initiation of non-invasive ventilation.
133
three areas of MND which involve SLT input
1. Speech/communication
2. Swallowing
3. Sialorrhea
134
type of dysarthria found in those with MND
mixed flaccid-spastic dysarthria
135
symptoms associated with dysarthria in MND
- Strangled voice quality (spastic).
- Vocal cord paresis.
- Soft palate involvement.
- Nasal regurgitation.
- Weak cough.
- Drooling.
- Tongue fasciculations.
136
patient report of symtoms of swallowing difficulty in MND
- Difficulty clearing mucous.
- Choking on dry/crumbly food.
- Avoidance of chewy meat or skinned fruit.
- Small sips to avoid coughing.
- Nasal regurgitation.
- Blender use and social restrictions.
137
patient report of symptoms of communication difficulty in MND
- Nasal quality, slurred speech.
- Weak, breathy, or strained voice.
- Shortness of breath while speaking.
- Saliva catching during speech.
138
symptoms of flaccid dysarthria on an oro-facial exam
- Flaccid dysarthria
- Nasal speech
- Nasal regurgitation
- Absent jaw jerk
- Reduced/absent gag reflex
- Lingual atrophy
- Fasciculations
139
features of spastic dysarthria on an oro-facial exam
- Spastic dysarthria
- Emotional lability
- Brisk jaw jerk
- Hypersensitive gag reflex
- Shrunken immobile tongue
140
3 strategies in dysarthria management
1. Education - informing the patient and their family of course and treatment of dysarthria.
2. Compensation - implementation of compensatory strategies to enhance intelligibility.
3. AAC - use of AAC devices (voice banking and eye gaze) to promote communication.
141
what is message banking
patient records messages to be able to play once speech deteriorates
142
what is voice bamking
patient records their voice to be able to create new messages with the recorded voice when their speech ability has deteriorated
143
where do MND patients get their voice/message banking devices
the IMNDA
144
considerations for implementing AAC
- Upper limb function.
- Literacy and computer skills.
- Cognition and social acceptability.
- Timing and prognosis.
145
goal of dysphagia management
Safe and efficient oral intake with emphasis on patient’s quality of life.
146
dysphagia management in MND
- Compensatory strategies over active exercises (due to fatigue concerns).
- Emerging evidence for EMST (Expiratory Muscle Strength Training).
147
when should tube feeding be introduced in MND
- Should be introduced proactively (not as crisis intervention).
- Consider when weight loss exceeds 5% and before respiratory involvement.
148
is the recommendation for PEG or RIG in MND
- PEG (Percutaneous Endoscopic Gastrostomy) vs. RIG (Radiologically Inserted Gastrostomy).
- Recommendation is for RIG as they do not require sedation, which as we know is risky for those with respiration features.
149
how is sialorrhea managed
1. Behavioural changes.
- Neck brace
- Beep reminders.
2. Education.
3. Anticholinergic medications.
- Hyoscine patch (can have side effects).
4. Botox injections.
5. Radiation therapy.
6. Portable suction devices.
